Linked Data
dbSNP Id:
rs1307471646
MyVariant Identifiers:
chr3:g.142188905_142188906insAC (hg19)
chr3:g.142470063_142470064insAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142470064_142470065dup , CM000665.2:g.142470064_142470065dup | GRCh38 |
| NC_000003.11:g.142188906_142188907dup , CM000665.1:g.142188906_142188907dup | GRCh37 |
| NC_000003.10:g.143671596_143671597dup | NCBI36 |
| NG_008951.1:g.113762_113763dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350721.9:c.6319+21_6319+22dup MANE Select | ENSP00000343741.4:n.6319+21_6319+22dup | |
| ENST00000513291.2:n.1503+21_1503+22dup | ||
| ENST00000654170.1:n.1162+21_1162+22dup | ||
| ENST00000656590.1:c.5109+21_5109+22dup | ||
| ENST00000661310.1:c.6127+21_6127+22dup | ENSP00000499589.1:n.6127+21_6127+22dup | |
| ENST00000665483.1:n.174+21_174+22dup | ||
| ENST00000666447.1:n.154+21_154+22dup | ||
| ENST00000666943.1:n.1783+21_1783+22dup | ||
| ENST00000350721.8:c.6319+21_6319+22dup | ENSP00000343741.4:n.6319+21_6319+22dup | |
| NM_001184.3:c.6319+21_6319+22dup | NP_001175.2:n.6319+21_6319+22dup | |
| XM_011512924.1:c.6325+21_6325+22dup | XP_011511226.1:n.6325+21_6325+22dup | |
| XM_011512925.1:c.6133+21_6133+22dup | XP_011511227.1:n.6133+21_6133+22dup | |
| XR_924147.1:n.6414+21_6414+22dup | ||
| XR_924148.1:n.6414+21_6414+22dup | ||
| XR_924149.1:n.6293+21_6293+22dup | ||
| NM_001354579.1:c.6127+21_6127+22dup | NP_001341508.1:n.6127+21_6127+22dup | |
| XR_001740179.2:n.6408+21_6408+22dup | ||
| XR_001740180.2:n.6462+21_6462+22dup | ||
| XR_001740181.2:n.6341+21_6341+22dup | ||
| XR_001740182.1:n.6293+21_6293+22dup | ||
| XR_002959543.1:n.6518+21_6518+22dup | ||
| XR_924148.2:n.6414+21_6414+22dup | ||
| NM_001184.4:c.6319+21_6319+22dup MANE Select | NP_001175.2:n.6319+21_6319+22dup | |
| NM_001354579.2:c.6127+21_6127+22dup | NP_001341508.1:n.6127+21_6127+22dup |